Sunday
Tuesday

Live Sessions

Please note that all times below refer to Central European Summer Time

10:00 – 11:30 hrs | Concurrent Sessions C15-C21 from submitted abstracts

Moderators:  Elfride De Baere, Maris Laan

C15.2 Evaluating positive and negative predictive values of expanded carrier screening: lessons learned from the ciliopathies

E. Vintschger, P. Joset, D. Kraemer, A. Rauch, Ruxandra Bachmann-Gagescu;
Zürich, Switzerland

C15.3 The Bardet-Biedl protein Bbs1 control protein and lipid composition of zebrafish photoreceptor outer segments

Markus Masek*, C. Etard, C. Hoffmann, A. Hülsmeier, T. Hornemann, U. Strähle, R. Bachmann-Gagescu;
Zurich, Switzerland

C15.4 Beyond syndromic optic atrophy: expanding the ocular phenotype caused by biallelicvariants in FDXR and reporting retinal dystrophy as a novel feature

Neringa Jurkute*, P.D. Shanmugarajah, M. Hadjivassiliou, J. Higgs, M. Vojcic, I. Horrocks, Y. Nadjar, V. Touitou, G. Lenaers, J. Acheson, A.G. Robson, F.L. Raymond, M.M. Reilly, Genomics England Research Consortium, P. Yu-Wai-Man, A.T. Moore, A.R. Webster, G. Arno;
London, United Kingdom

C15.5 A Mouse Model of Brittle Cornea Syndrome caused by mutation in Zfp469

Chloe M. Stanton, A. Findlay, C. Drake, Z. Mustafa, V. Vitart;
Edinburgh, United Kingdom

C15.6 Whole exome sequencing reveals a monogenic cause in 57% of individuals with laterality disorders and associated congenital heart defects

Y. Bolkier, O. Barel, D. Marek-Yagel, D. Atias-Varon, M. Kagan, A. Vardi, D. Mishali, U. Katz, Y. Salem, T. Tirosh, J.M. Jacobson, A. Raas-Rothschild, Y. Sarouf, O. Shlomovitz, A. Veber, N. Shalva, Y. Ben Moshe, O. Staretz-Chacham, G. Rechavi, S.M. Mane, Y. Anikster, A. Vivante, Ben Pode-Shakked;
Ramat-Gan, Israel

Moderators:  Zeynep Tümer, Christian Schaaf

C16.1 Pathogenic variants in SMARCA5, a chromatin remodeler, cause a syndromic neurodevelopmental disorder

Dong Li, Q. Wang, N. Gong, A. Kurolap, H. Baris Feldman, N. Boy, M. Brugger, K. Grand, K. McWalter, M. Guillen Sacoto, E. Wakeling, M. Nowaczyk, C. Gonzaga-Jauregui, M. Mathew, Y. Huang, T. Brunet, D. Choukair, D. Brown, T. Grebe, D. Tiosano, M. Kayser, T. Tan, M. Deardorff, Y. Song, H. Hakonarson;
Philadelphia, United States

C16.2 Biallelic TTI1 pathogenic variants cause a microcephalic neurodevelopmental disorder

M. Serey-Gaut, G.K. Essien-Umanah, P. Makrythanasis, M. Suri, A.M. Taylor, J. Sullivan, V. Shashi, X. Song, J.A. Rosenfeld, C. Cabrol, D. Pehlivan, Z. Coban Akdemir, B.B. Geckinli, J. Eason, R. Sachdev, C. Evans, M. Buckley, C. Nixon, J. Piard, T. Roscioli, J.R. Lupski, S.E. Antonarakis, V. Dawson, T. Dawson, Lionel Van Maldergem;
Besancon, France

C16.3 Monoallelic variants in TFAP2E cause central nervous system and craniofacial anomalies

Jeshurun C. Kalanithy*, G.C. Dworschak, J.A. Rosenfeld, E. Mingardo, J.D. Stegmann, A.C. Hilger, W. Tan, S.A. Coury, A.C. Woerner, J. Sebastian, P.A. Levy, A. Becker, T.T. Lindenberg, Ö. Yilmaz, H. Thiele, J.E. Posey, J.R. Lupski, W.M. Merz, B. Odermatt, H. Reutter;
Bonn, Germany

C16.4 Biallelic TRAPPC10 variants are associated with a microcephalic TRAPPopathy disorder in humans and mice

Lettie E. Rawlins*, H. Almousa, S. Khan, S.C. Collins, M.P. Milev, J.S. Leslie, D. Saint-Dic, A.M. Hincapie, G.V. Harlalka, V.E. Vancollie, C.J. Lelliott, A. Gul, B. Yalcin, A.H. Crosby, M. Sacher, E.L. Baple;
Exeter, United Kingdom

C16.6 Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

Irene de la Calle, E. Verdura, A. Rodríguez-Palmero, V. Vélez-Santamaria, L. Planas-Serra, M. Benkirane, F. Saettini, L. Pavinato, M. O’Learly, E. Barredo, V. Michaud, D.R. Adams, C. Casasnovas, H.C. Mefford, L. González Gutiérrez-Solana, A. Brusco, M. Koenig, A. Macaya, A. Pujol;
Barcelona, Spain

Moderators:  Zoltan Kutalik, Karoline Kuchenbäcker

C17.1 Estimation of penetrance for known gene-phenotype relationships using large-scale exome sequencing data in 394K UK Biobank participants

Abhishek Nag, A. Harper, Q. Wang, S. Cameron-Christie, K. Carss, S. Petrovski;
Cambridge, United Kingdom

C17.2 Public health impact of genetic variants

Sakari Jukarainen*, T. Kiiskinen, J. Karjalainen, S. Rüeger, M. Cordioli, H.M. Ollila, M. Pirinen, A. Ganna;
Helsinki, Finland

C17.3 Differentially expressed genes reflect disease-induced rather than disease-causing changes in the transcriptome

Eleonora Porcu, M.C. Sadler, K. Lepik, C. Auwerx, A.R. Wood, A. Weihs, D.M. Ribeiro, S. Bandinelli, T. Tanaka, M. Nauck, U. Volker, O. Delaneau, A. Metspalu, A. Teumer, T. Frayling, F.A. Santoni, A. Reymond, Z. Kutalik;
Lausanne, Switzerland

C17.4 The penetrance of age-dependent monogenic disease variants depends on ascertainment context

U.L. Mirshahi, K. Colclough, C. Wright, T. Laver, R. Stahl, A. Golden, J. Goehringer, A.T. Hattersley, D.J. Carey, M. Weedon, Kashyap A. Patel;
Exeter, United Kingdom

C17.5 Genetic and environmental determinants of drug adherence and drug purchasing behaviour.

Mattia Cordioli*, S. Jukarainen, T. Kiiskinen, S. Ripatti, A. Ganna;
Helsinki, Finland

C17.6 Revealing the recent demographic history of Europe via haplotype sharing in the UK Biobank.

Edmund H. Gilbert*, G.L. Cavalleri;
Dublin, Ireland

Moderators:  Hana Lango Allen, Alexandre Reymond

C18.1 An epigenome-wide view of osteoarthritis in primary tissues

Peter Kreitmaier, M. Suderman, L. Southam, R. Coutinho de Almeida, K. Hatzikotoulas, I. Meulenbelt, J. Steinberg, C. Relton, J.M. Wilkinson, E. Zeggini;
Neuherberg, Germany

C18.2 Dynamics of gene regulatory organization in longitudinal twin RNA-seq data

Anna Ramisch*, J.S. El-Sayed Moustafa, D. Ribeiro, G. Leday, Y. Jiao, G. Nicholson, M. Stevens, M. Abdalla, C. Menni, A. Viñuela, C. Holmes, T.D. Spector, M.I. McCarthy, S. Richardson, O. Delaneau, E.D. Dermitzakis;
Geneva, Switzerland

C18.3 Repeated genomic elements characterization at the single-cell level along normal brain development

Marie Coutelier, S. Jessa, N. Kabir, S. Hébert, D. Faury, N. Jabado, C.L. Kleinman;
Montreal, Canada

C18.4 A global map of the impact of deletion of post-translational modification sites in genetic diseases

Pablo Mínguez*, P. Vellosillo;
Madrid, Spain

C18.5 Transcriptome profiling using long-read sequence to dissect the interplay between genetic variant and transcript variations

Aline Réal, C. Borel, A. Ramisch, N. Lykoskoufis, J. Seebach, E. Dermitzakis;
Geneva, Switzerland

C18.6 Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells

Foad J. Rouhani, X. Zou, P. Danecek, T. Dias Amarante, G. Koh, Q. Wu, Y. Memari, R. Durbin, I. Martincorena, A.R. Bassett, D. Gaffney, S. Nik-Zainal;
Cambridge, United Kingdom

Moderators:  Celine Lewis, Ramona Moldovan

C19.1 Participant experiences of genome sequencing for rare diseases in the 100,000 Genomes Project: A mixed methods study

Michelle Peter, J. Hammond, S.C. Sanderson, J. Gurasashvili, A. Hunter, B. Searle, C. Patch, L.S. Chitty, M. Hill, C. Lewis;
London, United Kingdom

C19.2 Changing a single word in prenatal microarray agreement form significantly decreases the rate of reported variants of questionable significance.

Lena Sagi-Dain, M. Echar, A. Harari-Shaham, S. Polager-Modan, R. Zaatry, O. Krivoruk, J. Haddad-Halloun, A. Peleg;
Haifa, Israel

C19.3 Healthcare professionals’ views about responsibility in the sharing of genetic information to patients’ relatives

Álvaro Mendes, M. Paneque, J. Sequeiros;
Porto, Portugal

C19.4 The impact of the GDPR on genomic medicine and research

Colin Mitchell*, J. Ordish, E. Johnson, T. Brigden, A. Hall;
Cambridge, United Kingdom

C19.5 Loosening the purse strings: Influencing public funders about the value of genomic testing for intellectual disability

Deborah Schofield, O. Tan, R. Shrestha, S. West, J. Boyle, L. Christie, N. Hart, K. Lim, M. Leffler, L. Murray, R. Rajkumar, M. Rice, R. Tanton, J. Li, T. Roscioli, M. Field;
North Ryde, Australia

C19.6 Genomics in society: Engaging children in dialogue about human germline editing

Frances Borneman, B. Vijlbrief, D. Houtman, V. Buijs, S. Riedijk;
Rotterdam, Netherlands

Moderators:  Carla Oliveira, Serena Nik-Zainal

C20.1 Decrypting the breast cancer cellular complexity by single-cell transcriptomics of tumor-derived organoids

Paride Pelucchi, E. Mosca, C. Cocola, E. Piscitelli, N. Di Nanni, E. Abeni, I. Cifola, V. Nale, F.A. Cupaioli, T. Karnavas, A. Gritzapis, I. Missitzis, M. Götte, M. Palizban, B. Greve, G. Bertalot, A. Mezzelani, L. Milanesi, R.A. Reinbold, I. Zucchi;
Segrate, Italy

C20.2 Identifying and characterizing EZH2 as a druggable dependency factor for desmoid tumors in a genetic Xenopus tropicalis model for Gardner’s Syndrome

T. Naert, Dieter Tulkens*, T. Van Nieuwenhuysen, J. Przybyl, S. Demuynck, M. Al-Jazrawe, M. van de Rijn, B. Alman, K. De Leenheer, P. Coucke, D. Creytens, K. Vleminckx;
Ghent, Belgium

C20.3 Neuroblastoma somatic mutations enriched in cis-regulatory elements collectively affect genes involved in embryonic development and immune system response

Vito Alessandro Lasorsa*, S. Cantalupo, C. de Torres, S. Aveic, G. Tonini, A. Iolascon, M. Capasso;
Napoli, Italy

C20.4 Investigation of tumor suppressor gene loss on chromosome 8p in hepatocellular carcinoma using chromosome editing

Thorben Huth*, E.C. Dreher, S. Luiken, R.N. Sugiyanto, A. Jauch, P. Schirmacher, S. Roessler;
Heidelberg, Germany

C20.5 tRNASer overexpression induces adaptive mutations in NSCLC tumors

Mafalda R. Santos*, M. Pinheiro, A. Reis, A. André, S. Rocha, J. Carvalho, M.A.S. Santos, C. Oliveira;
Porto, Portugal

C20.6 Characterization of fusion-circRNAs in childhood acute lymphoblastic leukemia: f-circMLL-AF4

Angela Gutierrez-Camino, C. Richer, L. Poncelet, C. Fuchs, A. Bataille, D. Sinnett;
Montreal, Canada

Moderators:  Elisa Giogio, Aurora Pujol

C21.1 Hypermorphic heterozygous variants in the tyrosine kinase ZAP-70 underlie autoimmune disease

Caspar I. van der Made, R.L. Smeets, J. Potjewijd, A. Simons, E.E. Vorsteveld, J.H.M. Schuurs-Hoeijmakers, S.A. De Munnik, M. Vreeburg, H.J.P.M. Koenen, M.G. Netea, G.T.J. van Well, F.L. van de Veerdonk, A. Hoischen;
Nijmegen, Netherlands

C21.2 Gene therapy in a novel large animal model of Stargardt disease

Eugenio N. Pugni*, M. Lupo, C. Iodice, C. Gesualdo, S. Rossi, F. Simonelli, M.L. Bacci, C. Galli, A. Auricchio, I. Trapani;
Pozzuoli, Italy

C21.3 Tasimelteon Safely and Effectively Improves Sleep in Smith Magenis Syndrome: a Double-Blind Randomized Trial Followed by an Open-Label Extension

Christos Polymeropoulos;
Washington DC, United States

C21.4 Attenuation of dysfunctional DNA damage response and PARP1 signaling by minocycline reduces ectopic calcification in pseudoxanthoma elasticum

Lukas Nollet*, M. Van Gils, A. Willaert, P.J. Coucke, O.M. Vanakker;
Ghent, Belgium

C21.5 New uses for old drugs: Added value of celiprolol and pravastatin in vascular EDS

Nicolo Dubacher*, S.M. Caspar, J. Meienberg, G. Matyas;
Schlieren-Zurich, Switzerland

C21.6 Increased CHIP prevalence amongst people living with HIV

Konstantin Popadin, A.G. Bick, C.W. Thorball, M. Uddin, M. Zanni, B. Yu, M. Cavassini, A. Rauch, P. Tarr, P. Schmid, E. Bernasconi, H.F. Günthard, P. Libby, E. Boerwinkle, P.J. McLaren, C.M. Ballantyne, S. Grinspoon, P. Natarajan, J. Fellay;
Lausanne, Switzerland

11:30 – 12:00 hrs | Break

12:00 – 13:00 hrs | Plenary Session PL3

Moderators:  Alexandre Reymond, Ramona Moldovan

PL3.1  Psychological aspects of genetic risk and genetic testing revisited

Gerry Evers-Kiebooms;
Belgium

12:00 – 13:00 hrs | Educational Session E02

Moderators:  Celia Azevedo Soares, Juliana Cerqueira, Ruta Marcinkute, Florence Riccardi

E02.1  Human stem cells-based organoids for personalized disease modelling in human genetics

Hans Clevers;
The Netherlands

E02.2 Modeling human lung development and disease using hPSC-derived organoids

Hans-Willem Snoeck;
Untited States

 

12:00 – 13:00 hrs | Corporate Satellites

More information

13:00 – 13:45 hrs | e-Poster Viewing with Authors (Group C)

13:45 – 14:00 hrs | Break

14:00 – 15:00 hrs | Workshops W07-W11

Workshop Organisers:  Gunnar Houge, Heidi Rehm
Additional speakers: Leslie Biesecker & Steven Harrison

About the workshop:

In 2015, the American College of Medical Genetics and Genomics (ACMG), in collaboration with the Association for Molecular Pathology (AMP) published detailed standards for evaluating evidence and classifying variants according to pathogenicity for Mendelian disease and standardized the terms for classification. These standards are now routinely used by both the clinical and research communities. However, aspects of the standards are still challenging to apply and differences in variant classification can occur even when using the same standard. To address these issues, the Sequencing Variant Interpretation working group of the Clinical Genome Resource (ClinGen) has been working to evolve the standards, providing additional guidance on the application of individual evidence criteria, as well as guiding ClinGen’s Variant Curation Expert Panels that develop disease-specific specifications for sets of gene. Resources can be found here:
https://clinicalgenome.org/working-groups/sequence-variant-interpretation/

ACMG has now convened a new committee, adding ClinGen as a third contributing organization, to publish the next set of standards for variant classification. Anticipated to be released in 2022, the committee has been hard at work developing the new framework. Leslie Biesecker and Steven Harrison, co-chairs of the new ACMG/ClinGen/AMP committee, will give a preview of the modifications anticipated in the new guideline and will give attendees the opportunity to provide feedback on the draft framework through audience poll questions and open discussion.

In addition, Gunnar Houge will also solicit feedback through audience poll questions on the work of an ad hoc working group in ESHG (Johan den Dunnen, Andreas Laner, Sebahattin Cirak, Nicole de Leeuw, Hans Scheffer and Gunnar Houge) that proposed a stepwise ABC system for classification of any type of genetic variant, with a molecular (A), clinical (B) and standard comment (C ) arm, that can be an add-on or alternative to the  2015 ACMG/AMP guideline. This system can be found here:
https://www.eshg.org/index.php?id=949

Workshop Organisers:  Tara Clancy, Mike Parker

About the workshop:

An awareness of the ethical aspects of genomics and its implementation in health care is essential for trainee and experienced clinicians, scientists and researchers. The UK’s Genethics Forum (established in 2000) helps genomic professionals identify and discuss ethical issues in their practice, develop their skills in resolving these and contribute to the improvement of ethical decision-making by sharing good practice.

Detailed programme:

14:00-14:03
Introduction
Tara Clancy

14:04-14:16
Why and how to discuss ethical issues with patients, families and colleagues
Tara Clancy

14:16-14:28
A review of the cases discussed at the Genethics Forum and their effect on practice and guidelines
Mike Parker

14:28-14:40
Reflections on attending the Genethics Forum and its implementation in the Netherlands
Irene van Langen

14:40-14:55
Panel discussion with speakers, Q&A from the audience

14:55-15:00
Closing
Tara Clancy

Workshop Organisers:  Michal Szpak

About the workshop:

Genetic variation between individuals results in a range of human phenotypes, from differences in the immune response against transmissible diseases, such as COVID-19, to rare developmental disorders. Understanding the effect of genetic variants upon genes associated with phenotypes is underpinned by a high quality geneset. The Ensembl/GENCODE geneset contains expert annotation of evidence based transcripts. The annotation of clinically important genes is prioritised as part of the MANE project (Matched Annotation from NCBI and EMBL-EBI) where MANE Select transcripts and additional MANE Plus Clinical transcripts are agreed with the RefSeq team to provide a resource for variant reporting. Additionally, we have updated the annotation of ~300 human genes associated with SARS-CoV-2  infection, such as ACE2, to improve annotation of alternative promoter usage and splicing.

The Ensembl Variant Effect Predictor (VEP) toolset allows fast and flexible annotation of genetic variants to predict functional consequences in the context of the Ensembl/GENCODE geneset, allowing further variant filtering, prioritisation and reporting using the MANE Select and MANE Plus Clinical transcript sets.

This workshop will guide you through the Ensembl/GENCODE and MANE annotation process, allowing you to experience the challenges involved in annotation and transcript selection. You will also learn how to use the Ensembl VEP to map genetic variants onto Ensembl/GENCODE transcripts and other Ensembl annotation including regulatory regions and regions of evolutionary conservation to determine their likely functional effects and filter to prioritise variants.

In order to follow along the hands-on aspects of this workshop, including exploring online databases and exercises, you will need to bring a laptop to this session. Workshop materials, including slides, demonstration screenshots, exercises, sample files and solutions will be made available before the workshop and will remain permanently online at the Ensembl training portal:  https://training.ensembl.org

Workshop speakers:

Michal Szpak
Adam Frankish
Jonathan Mudge
Anja Thormann
Diana Lemos
Helen Schuilenburg
Aleena Mushtaq

Workshop Organisers:  Martina Cornel, Carla van El

About the workshop:

Gene editing has stirred hope for finding cures for serious genetic disorders. As for germline gene editing, ESHG stated that it is premature, many countries prohibit research, there is international support for a moratorium, and global initiatives for guidance development and public debate have been initiated. On the other hand, for somatic gene editing animal experiments and human trials show excellent results. In this workshop we discuss the state of the art and prospects for human germline gene editing and somatic editing. For which disorders cures are becoming conceivable? What technical challenges and ELSI issues lie ahead?

Programme:

14:00- 14:03
Introduction
Martina Cornel, The Netherlands

14:03-14:18
The status of the international debate on Germline Gene Editing
Michelle Ramsay, South Africa

14:18-14:33
Somatic gene editing
Kirmo Wartiovaara, Finland

14:33-14:48
Editing haemoglobin disorders
Selim Corbacioglu, Germany

14:48-15:00
Discussion & Closure
Martina Cornel, The Netherlands

15:00 – 15:30 hrs | Break

15:30 – 16:30 hrs | Corporate Satellites

More information

16:30 – 17:00 hrs | Break

17:00 – 18:15 hrs | Concurrent Symposia S13-S17

Moderators:  Lars Feuk, Christian Gilissen

S14.1 Unraveling the sequence of the centromere

Karen Miga;
United States

S14.2 De novo assembly of human genomes

Adam Ameur;
Sweden

S14.3 Genome architecture and disease

Evan Eichler;
United States

Moderators:  Christian Schaaf, Carla Oliveira

S15.1 Cell competition: mechanisms and implications for health and disease

Eugenia Piddini;
United Kingdom

S15.2 Quantitative and dynamic aspects of cell competition

Miguel Torres;
Spain

S15.3 Cell heterogeneity in normal human development

Thierry Voet;
Belgium

Moderators:  Alexandre Reymond, Jeffrey Kidd

S16.1 Global genetics towards a socially just practice: a view from North America

Charmaine Royal;
United States

S16.2 Global genetics towards a socially just practice: a view from Asia

Kazuto Kato;
Japan

S16.3 Global genetics towards a socially just practice: a view from Africa

Jantina de Vries;
South Africa

S16.4 Global genetics towards a socially just practice: a view from Europe

Barbara Prainsack;
Austria

Moderators:  Zoltan Kutalik, Karoline Kuchenbäcker

S17.1 Biases in GWAS and where to find them: detecting and accounting for biases in GWAS studies beyond population structure

Nicola Pirastu;
United Kingdom

S17.2 Estimating direct and indirect genetic effects on birth weight

Nicole Warrington;
Australia

S17.3 The nature of nurture

Patrick Turley;
United States

Moderators:  Valerie Cormier-Daire, Yasemin Alanay

S18.1 Approach to overgrowth syndrome in the genome era

Kate Tatton-Brown;
United Kingdom

S18.2 Epigenetic signatures in overgrowth syndrome

Rosanna Weksberg;
Canada

S18.3 Regional overgrowth

Leslie Biesecker;
United States

18:15 – 18:45 hrs | Break

18:45 – 19:45 hrs| Meet the speakers of Educational Sessions E03-E11

18:45 – 19:45 hrs | Corporate Satellites

More information

19:45 – 20:15 hrs | Break

20:15 – 21:45 hrs | Corporate Satellites

More information

Note that the programme is subject to change, and will be updated continuously up to the conference

Sunday
Tuesday